Gastrointestinal Stromal Tumor Associated with Neurofibromatosis Type 1 Simulating a Neurofibrosarcoma in a Black African Adult Patient

Abstract

Gastrointestinal stromal tumor (GIST) is the most prevalent mesenchymal tumor encountered in patients with neurofibromatosis type I (NF1). This association is rarely reported in black African adult patients. Clinical signs such as abdominal pain, intestinal bleeding, and palpable abdominal nodules may contribute to the diagnosis of GIST. However, these clinical signs may also indicate the presence of other solid intestinal tumors such as a neurofibrosarcoma which is an intestinal complication of NF1. The immunohistochemistry staining of the resected tissue is mandatory that allows establishing a correct diagnostic of GIST. The immunohistochemistry is also a challenging method in African countries with limited resources. Herein, we report a case of multiple intestinal involvement of GIST associated with NF1 revealed by a recurrent intestinal bleeding in a black African adult patient. The GIST diagnosis was suspected on a computed tomography scan images and laparotomy findings, which were confirmed by histopathological and immunochemistry examinations of the resected nodules. The immunohistochemistry staining of the tissue was positive for CD34 and CD117 indicating the presence of GIST in black African patient with NF1. The surgical treatment was consisted of a double intestinal resection with anastomosis that removed all palpable nodules located on the intestinal antimesenteric wall. No additional chemotherapy was administered to the patient who is so far under follow-up. The patient has not presented any episode of intestinal bleeding since the surgical treatment. We emphasize in this case report the importance of a recurrent intestinal bleeding in patient with NF1 that may indicate the presence of GIST and, the need of performing a large intestinal resection, as the most valuable treatment in limited resource countries.

Keywords: Africa; Gastrointestinal stromal tumor; Intestinal bleeding; Neurofibromatosis.

Fig. 1

Cutaneous neurofibroma (+) and “café-au-lait” spots (++).

Fig. 2

CT scan showing intestinal wall thickness (a) and intra-abdominal nodules (b) with contrast enhancement.

Fig. 3

Sizable nodules (+) on anti-mesenteric edge of small intestine and infra-centrimetric nodules (++).

Fig. 4

a Dense fibrillar or epithelioid spindle cells of GIST associated with eosiniophilic cytoplasm and rare atypical cytonuclear without mitosis (HES×40). b Positive immunochemistry staining for CD34 (×100). c Positive immunochemistry staining for CD117 (×100). GIST, gastrointestinal stromal tumor.